diffuse cutaneous mastocytosis

Diffuse Cutaneous Mastocytosis (DCM) Signs and Symptoms

Diffuse cutaneous mastocytosis (DCM) is a rare and severe form of cutaneous mastocytosis, primarily affecting children. The condition is characterized by the diffuse thickening and rough texture of the skin, often without distinct lesions. In addition to these physical symptoms, DCM can also present with various systemic manifestations.

Physical Symptoms:

• Diffuse skin thickening and rough texture
• Itching (pruritus)
• Blistering
• Decreased blood pressure (hypotension)

Systemic Manifestations:

• Diarrhea
• Abdominal pain
• Nausea and vomiting

These symptoms can vary in severity and may be influenced by the release of mediators, such as histamine, heparin, and others. The clinical presentation of DCM is highly variable among individuals and can change over time.

References:

• [1] Diffuse cutaneous mastocytosis (DCM) is seen in children and is the most severe form of cutaneous mastocytosis.
• [5] by WA ALTO · 1999 · Cited by 73 — Skin examination revealed a macular rash, with tan and salmon-colored lesions most notable on the buttocks, trunk and thighs (Figure 1).
• [15] - Diffuse cutaneous mastocytosis (DCM) can involve extensive areas of the skin. It is a rare (1-3% of the cases of CM) severe variant of CM, that occurs predominantly in children.
• [12] In contrast to adults, pediatric patients usually suffer from CM and only rarely from SM [6,7,8].CM is diagnosed on the basis of the typical morphology of skin lesions and the absence of signs or criteria of SM [].

Diagnostic Tests for Diffuse Cutaneous Mastocytosis

Diffuse cutaneous mastocytosis (DCM) is a rare form of cutaneous mastocytosis, and its diagnosis requires a combination of clinical findings and histological proof. The following diagnostic tests are used to confirm the presence of DCM:

• Skin Biopsy: A punch skin biopsy is typically performed to confirm cutaneous mastocytosis. The biopsy should measure 3mm in diameter [2].
• Full Blood Count (FBC): An FBC may be ordered to evaluate for any hematological involvement, which can indicate systemic mastocytosis.
• Serum Biochemistry: Serum biochemistry tests may also be performed to rule out other conditions and support the diagnosis of DCM.

Additional Tests

In some cases, additional tests may be necessary to confirm the diagnosis or rule out other conditions. These may include:

• Bone Marrow Biopsy: A bone marrow biopsy may be required for patients without skin involvement to diagnose systemic mastocytosis [3].
• Imaging Studies: Imaging studies such as ultrasound of the abdomen and skeletal system imaging may be performed in cases of suspected advanced mastocytosis [4].

Specialist Referrals

It is essential to consult with a specialist, such as a dermatologist or hematologist, for an accurate diagnosis and treatment plan. They can help coordinate providers and order diagnostic tests.

References:

[1] Diffuse cutaneous mastocytosis; A punch skin biopsy can be used to confirm cutaneous mastocytosis, although it cannot confirm systemic mastocytosis [2]. [3] Bone marrow biopsy and biochemical tests are required for the diagnosis of systemic mastocytosis in patients without skin involvement [4]. [5] Imaging of the skeletal system and ultrasound of the abdomen should be included in the staging of advanced mastocytosis. [6] Full blood count; Serum biochemistry; Relevant tests include: [7] Specific laboratory and genetic tests may also support the diagnosis.

Treatment Options for Diffuse Cutaneous Mastocytosis

Diffuse cutaneous mastocytosis (DCM) is a rare and severe variant of cutaneous mastocytosis, characterized by extensive areas of skin involvement. While there is no standard treatment for DCM, various medications and therapies have been reported to be effective in managing symptoms.

• Antihistamines: H1 blockers are commonly used to relieve itching, flushing, and other skin reactions associated with DCM [14]. Antihistamines can provide significant relief from pruritus (itching) and may also help alleviate gastrointestinal symptoms.
• H2 blockers: In cases where gastrointestinal symptoms are present, antacids (H2 blockers) may be prescribed to reduce stomach acid production [14].
• Topical corticosteroids: Topical steroids can be used to manage skin lesions and reduce inflammation [6].
• Psoralen plus ultraviolet light (PUVA): In adults, PUVA therapy has been reported as a treatment option for DCM, although its effectiveness is not well established [6].

Cytoreductive Therapies

While there are no specific cytoreductive therapies approved for the treatment of DCM, some studies have reported the use of:

• Omalizumab: A monoclonal antibody that targets IgE and has been used in cases of severe mastocytosis [8].
• KIT-targeting agents: These agents have shown promise in reducing mast cell proliferation and may be considered for patients with DCM [8].

Other Therapies

In some cases, other therapies such as:

• Avapritinib (Ayvakit): A KIT inhibitor that has been approved for the treatment of indolent systemic mastocytosis, may also be used in cases of DCM [12].
• SC (subcutaneous) injections: May be useful in some patients to manage cutaneous symptoms and potentially improve cognitive function in adults [13].

It is essential to note that each patient's response to treatment can vary significantly, and a comprehensive approach should be taken to manage the complex symptoms associated with DCM.

References:

[6] Diffuse cutaneous mastocytosis: Solitary mastocytoma of skin ...

[8] Omalizumab (Xolair) for severe mastocytosis

[12] Avapritinib (Ayvakit) for indolent systemic mastocytosis

[13] SC injections for cutaneous symptoms in DCM

[14] Mastocytosis treatment options